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Ndp Norrie disease (pseudoglioma) (human) [ Mus musculus (house mouse) ]

Gene ID: 17986, updated on 28-Oct-2024

Summary

Official Symbol
Ndpprovided by MGI
Official Full Name
Norrie disease (pseudoglioma) (human)provided by MGI
Primary source
MGI:MGI:102570
See related
Ensembl:ENSMUSG00000040138 AllianceGenome:MGI:102570
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
ND; Ndph
Summary
This gene encodes a secreted protein that acts a ligand for multiple different receptors and participates in both Wnt and Wnt-independant signalling. Its activity is important in vascular development of the eye and inner ear. Mutation of the related gene in humans causes Norrie syndrome. [provided by RefSeq, May 2015]
Expression
Biased expression in subcutaneous fat pad adult (RPKM 4.4), frontal lobe adult (RPKM 4.3) and 11 other tissues See more
Orthologs
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Genomic context

See Ndp in Genome Data Viewer
Location:
X A1.2; X 12.07 cM
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (16751760..16778013, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (16885521..16911774, complement)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chrX:16196670-16196853 Neighboring gene STARR-seq mESC enhancer starr_46819 Neighboring gene monoamine oxidase A Neighboring gene monoamine oxidase B Neighboring gene STARR-seq mESC enhancer starr_46820 Neighboring gene STARR-seq mESC enhancer starr_46821 Neighboring gene STARR-seq mESC enhancer starr_46822 Neighboring gene predicted gene 4203 Neighboring gene EF-hand domain (C-terminal) containing 2 Neighboring gene predicted gene, 35105 Neighboring gene TatD DNase domain containing 2 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (3) 
  • Targeted (4)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables cytokine activity IDA
Inferred from Direct Assay
more info
PubMed 
enables cytokine activity ISO
Inferred from Sequence Orthology
more info
 
enables frizzled binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables frizzled binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables frizzled binding ISO
Inferred from Sequence Orthology
more info
 
enables protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in Norrin signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in Norrin signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in Norrin signaling pathway ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within angiogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within blood vessel remodeling IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within canonical Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cellular response to hypoxia IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cone retinal bipolar cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in decidualization IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within dendrite development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within dendritic spine development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within endothelial cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within establishment of blood-brain barrier IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within establishment of blood-brain barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within establishment of blood-retinal barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within exploration behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in extracellular matrix-cell signaling IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within gene expression IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within glutathione metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within glycine metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within inflammatory response IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within lens development in camera-type eye IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within lens development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within microglia differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within microglial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neural retina development IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within neural retina development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neuron apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within optic nerve development IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within placenta development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within protein targeting to lysosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within re-entry into mitotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within response to axon injury IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within response to hypoxia IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within retina blood vessel maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within retina development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within retina layer formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within retina morphogenesis in camera-type eye IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within retina morphogenesis in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within retina vasculature development in camera-type eye IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within retina vasculature development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within retina vasculature morphogenesis in camera-type eye IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within retina vasculature morphogenesis in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within retinal blood vessel morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within retinal ganglion cell axon guidance IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within retinal pigment epithelium development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within retinal rod cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within serine family amino acid metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within smoothened signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within tricarboxylic acid cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within ubiquitin-dependent endocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cell surface IEA
Inferred from Electronic Annotation
more info
 
located_in cell surface ISO
Inferred from Sequence Orthology
more info
 
is_active_in collagen-containing extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in collagen-containing extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
located_in collagen-containing extracellular matrix ISO
Inferred from Sequence Orthology
more info
 
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular space ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
norrin
Names
norrie disease protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_010883.3NP_035013.1  norrin precursor

    See identical proteins and their annotated locations for NP_035013.1

    Status: REVIEWED

    Source sequence(s)
    BC090623, CJ062577
    Consensus CDS
    CCDS30034.1
    UniProtKB/Swiss-Prot
    P48744, Q5CZY6
    Related
    ENSMUSP00000046692.8, ENSMUST00000040134.8
    Conserved Domains (1) summary
    smart00041
    Location:41127
    CT; C-terminal cystine knot-like domain (CTCK)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    16751760..16778013 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)